磁共振成像在罕见遗传性疾病（即色素失禁症， 也称布洛赫-苏兹伯格综合征）诊断中的应用： 临床病例

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色素失禁症（布洛克-苏兹伯格综合征，Bloch-Sulzberger Syndrome）是一种罕见的遗传性疾病，表现为特征性皮疹以及其他器官和系统的损坏。磁共振成像是显示出大脑结构病变和预测儿童神经系统表现的优先方法。

皮肤科医生在色素失禁症的诊断中起着关键作用；需要通过对IKBKG基因进行分子遗传分析，以确诊。

一名新生女婴患有典型的布洛赫-苏兹伯格综合征皮疹和IKBKG基因缺失，在进行脑磁共振成像检查后，医生发现了多处缺血、出血和传导通路病变。

布洛赫-苏兹伯格综合征患者的脑磁共振成像可用于评估脑物质损坏的严重程度，这有助于解释神经症状的原因、调整康复措施和预测患儿的发展。

作者简介

Igor I. Yarmola

National Medical Research Center for Children's Health

编辑信件的主要联系方式.
Email: lord_dukich@bk.ru
ORCID iD: 0000-0002-1272-5119
SPIN 代码: 5591-8066
俄罗斯联邦, Moscow

Anatoly V. Anikin

National Medical Research Center for Children's Health

Email: anikacor@gmail.com
ORCID iD: 0000-0003-0362-6511
SPIN 代码: 7592-1352

MD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

Dmitry A. Gankin

Shchelkovsky Perinatal Center

Email: ganja-nn@yandex.ru
ORCID iD: 0009-0001-6779-8702
俄罗斯联邦, Schelkovo

Lyubov E. Fomina

National Medical Research Center for Children's Health

Email: love.fomina@mail.ru
ORCID iD: 0000-0002-3838-3284
SPIN 代码: 1298-8350
俄罗斯联邦, Moscow

Natalia A. Kharitonova

National Medical Research Center for Children's Health

Email: kharitonovan@nczd.ru
ORCID iD: 0000-0002-6912-1471
SPIN 代码: 7379-8269

MD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

Ilya S. Zhanin

National Medical Research Center for Children's Health

Email: zhaninis@nczd.ru
ORCID iD: 0000-0003-1423-0379
SPIN 代码: 6108-2016

MD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

Aleksandr A. Pushkov

National Medical Research Center for Children's Health

Email: n1972z@yandex.ru
ORCID iD: 0000-0001-6648-2063
SPIN 代码: 2928-5764

Cand. Sci. (Biol.)

俄罗斯联邦, Moscow

Milana A. Basargina

National Medical Research Center for Children's Health

Email: kharitonovan@nczd.ru
ORCID iD: 0000-0003-2075-6668
SPIN 代码: 5504-7154

MD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

Olga B. Kondakova

National Medical Research Center for Children's Health

Email: n1972z@yandex.ru
ORCID iD: 0000-0002-6316-9992
SPIN 代码: 9066-3698

MD, Cand. Sci. (Med.)

俄罗斯联邦, Moscow

参考

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1. JATS XML
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2. 图1。沿布拉什可氏线扩散的水泡。

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3. 图2。大脑弥散加权图像，轴向面：a——箭头指大脑脚的传导通路信号增加；b——胼胝体的多发病灶和病变。

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4. 图3。大脑磁共振成像：a——SWI图像（磁敏感加权成像）（箭头指微出血灶）；b——T1加权图像（箭头指皮质坏死的高密度区）。

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